Maroteaux–Le Merrer–Bensahel syndrome

Maroteaux–Lamy Syndrome, also known as Mucopolysaccharidosis Type VI (MPS VI), is a rare lysosomal storage disorder caused by the deficiency of the enzyme arylsulfatase B. This enzyme deficiency leads to the accumulation of dermatan sulfate and chondroitin sulfate in the body, causing various symptoms and complications. It is important to note that Maroteaux–Le Merrer–Bensahel syndrome is not a recognized medical condition, and it appears there might be a confusion or mix-up with similar-sounding syndromes. Therefore, this article will focus on Maroteaux–Lamy Syndrome, a well-documented condition.

Overview

Maroteaux–Lamy Syndrome is a genetic disorder that affects many parts of the body and is characterized by a wide range of symptoms and severity. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Symptoms

The symptoms of Maroteaux–Lamy Syndrome can vary widely among affected individuals but commonly include growth retardation, skeletal abnormalities, vision and hearing impairment, cardiovascular issues, and respiratory problems. Patients may also exhibit coarse facial features, thickened skin, and an enlarged liver and spleen.

Diagnosis

Diagnosis of Maroteaux–Lamy Syndrome is based on clinical evaluation, the presence of characteristic symptoms, and confirmed by laboratory tests that measure the activity of arylsulfatase B enzyme in the body. Genetic testing can also identify mutations in the ARSB gene, which provides definitive confirmation of the diagnosis.

Treatment

There is no cure for Maroteaux–Lamy Syndrome, but treatment is focused on managing symptoms and improving quality of life. Enzyme replacement therapy (ERT) with galsulfase (Naglazyme), specifically approved for MPS VI, has shown to improve walking capacity and reduce urinary glycosaminoglycan levels. Other treatments may include physical therapy, surgeries to address skeletal abnormalities, and interventions to manage cardiac and respiratory complications.

Prognosis

The prognosis for individuals with Maroteaux–Lamy Syndrome varies depending on the severity of symptoms and the effectiveness of treatment interventions. Early diagnosis and treatment initiation are crucial for improving outcomes and quality of life.

See Also

• Mucopolysaccharidosis
• Lysosomal storage disorder
• Genetic disorder
• Enzyme replacement therapy